ClinVar Miner

List of variants reported as pathogenic by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Minimum conflict level:
ClinVar version:
Total variants: 290
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg) rs368587966 0.00007
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter) rs964532159 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294 0.00004
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_002693.3(POLG):c.2420G>A (p.Arg807His) rs796052887 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs) rs766192888 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113 0.00001
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn) rs1419606204 0.00001
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs) rs1175359422 0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) rs118204017 0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117 0.00001
NM_000018.4(ACADVL):c.138+1G>A rs747351687 0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083 0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666 0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) rs1555529088 0.00001
NM_000018.4(ACADVL):c.343-1G>A rs1555527877 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg) rs746688190 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg) rs763630981 0.00001
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter) rs371407903 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000018.4(ACADVL):c.63-2A>C rs1555527513 0.00001
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro) rs140629318 0.00001
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs) rs746860401 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met) rs771247610 0.00001
NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter) rs1182326570 0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130 0.00001
NM_001278716.2(FBXL4):c.859-1G>T rs368965675 0.00001
NM_002693.3(POLG):c.1120C>T (p.Arg374Ter) rs960142425 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) rs1001570418 0.00001
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_002693.3(POLG):c.2563G>T (p.Val855Leu) rs771254207 0.00001
NM_002693.3(POLG):c.2870C>T (p.Ala957Val) rs753160398 0.00001
NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter) rs767708989 0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg) rs761649878 0.00001
NM_002693.3(POLG):c.3483-4_3497del rs756325504 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NC_012920.1(MT-ATP6):m.8993_8994inv
NC_012920.1(MT-ATP6):m.9032T>C rs1603221994
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-CYB):m.12276G>A rs1603223645
NC_012920.1(MT-CYB):m.14710G>A rs1603224840
NC_012920.1(MT-CYB):m.14739G>A rs1603224850
NC_012920.1(MT-CYB):m.15915G>A rs1603225588
NC_012920.1(MT-CYB):m.1644G>A rs587776441
NC_012920.1(MT-CYB):m.3243A>T rs199474657
NC_012920.1(MT-CYB):m.3255G>A rs1603218856
NC_012920.1(MT-CYB):m.3302A>G rs1603218878
NC_012920.1(MT-CYB):m.4298G>A rs1603219395
NC_012920.1(MT-CYB):m.5536_5537insT rs1603220010
NC_012920.1(MT-CYB):m.5538G>A rs1603220012
NC_012920.1(MT-CYB):m.5540G>A rs1603220014
NC_012920.1(MT-CYB):m.5543T>C rs1603220016
NC_012920.1(MT-CYB):m.8362T>G rs1603221423
NC_012920.1(MT-ND1):m.3380G>A rs1603218926
NC_012920.1(MT-ND2):m.5001dup rs1603219713
NC_012920.1(MT-ND5):m.12425del rs1603223730
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.13094T>C rs1603224029
NC_012920.1:m.13514A>G rs587776440
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3291T>C rs869312463
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.3481G>A rs587776433
NC_012920.1:m.7445A>G rs199474818
NC_012920.1:m.7471dup rs111033319
NC_012920.1:m.8969G>A rs794726857
NC_012920.1:m.8993T>C rs199476133
NC_012920.1:m.8993T>G rs199476133
NC_012920.1:m.9176T>C rs199476135
NC_012920.1:m.9176T>G rs199476135
NC_012920.1:m.9185T>C rs199476138
NM_000018.3(ACADVL):c.1375dup rs796051916
NM_000018.4(ACADVL):c.1039del (p.Ala347fs) rs2071295244
NM_000018.4(ACADVL):c.104del (p.Pro35fs) rs1443151475
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs) rs2071296591
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs) rs1402646371
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1193_1194insGCA (p.Tyr398Ter) rs2071337202
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val) rs2071345754
NM_000018.4(ACADVL):c.1316del (p.Gly439fs) rs748077880
NM_000018.4(ACADVL):c.1316dup (p.Met440fs) rs748077880
NM_000018.4(ACADVL):c.1317dup (p.Met440fs) rs1567567440
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del) rs762619071
NM_000018.4(ACADVL):c.1532+2T>C rs111851815
NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs) rs2071371983
NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter) rs2071146837
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) rs1060499596
NM_000018.4(ACADVL):c.1605+2T>A rs1597537351
NM_000018.4(ACADVL):c.1605+2T>C rs1597537351
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs) rs2071393587
NM_000018.4(ACADVL):c.1723dup (p.Leu575fs) rs2071395312
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs) rs2071395559
NM_000018.4(ACADVL):c.1752-3_1755del rs2071401309
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter) rs2071404265
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs) rs2071412066
NM_000018.4(ACADVL):c.1896dup (p.Asn633fs) rs2071412513
NM_000018.4(ACADVL):c.192del (p.Lys64fs) rs771055189
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser) rs2071416769
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) rs765432568
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.278-1G>A rs1298004609
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs) rs1597520263
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs) rs1057516979
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu) rs750653177
NM_000018.4(ACADVL):c.342+1G>C rs780020193
NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter) rs370146676
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.541dup (p.His181fs) rs1337636757
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys) rs1597525536
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter) rs2071253904
NM_000018.4(ACADVL):c.711_712del (p.Cys237fs) rs2071256607
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter) rs2071258420
NM_000018.4(ACADVL):c.753-2A>G rs398123092
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs) rs2071266269
NM_000018.4(ACADVL):c.79_100del (p.Leu27fs) rs2071119862
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs) rs2071269046
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000018.4(ACADVL):c.879-8T>A rs2071286355
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs) rs2071289046
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001278716.2(FBXL4):c.1210C>T (p.Gln404Ter) rs1187832552
NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=) rs1554218789
NM_001278716.2(FBXL4):c.1389+3_1389+6del rs1554216735
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter) rs398123059
NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer) rs765882664
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) rs1554215986
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
NM_001278716.2(FBXL4):c.1687C>T (p.Gln563Ter) rs1554215964
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001278716.2(FBXL4):c.273_277del (p.Phe91fs) rs766892502
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter) rs1554222122
NM_001278716.2(FBXL4):c.326del (p.Ser109fs) rs761215749
NM_001278716.2(FBXL4):c.513-1G>A rs1554221258
NM_001278716.2(FBXL4):c.618_621dup (p.Glu208fs) rs886041625
NM_001278716.2(FBXL4):c.858+1G>T rs1394080480
NM_002437.4(MPV17):c.71-2_79delins4
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002437.5(MPV17):c.293del (p.Pro98fs) rs1553383480
NM_002437.5(MPV17):c.376-1G>A rs1423840146
NM_002437.5(MPV17):c.376-2A>C rs113055360
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs) rs796052908
NM_002693.3(POLG):c.1289T>C (p.Met430Thr) rs1567191474
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter) rs1567191417
NM_002693.3(POLG):c.1562del (p.Pro521fs) rs1567191094
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu) rs1064794214
NM_002693.3(POLG):c.202C>T (p.Gln68Ter) rs202039305
NM_002693.3(POLG):c.2038del (p.Leu680fs) rs1567188632
NM_002693.3(POLG):c.2070+1G>A rs1567188588
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter) rs867038717
NM_002693.3(POLG):c.2157+5_2157+6delinsAG rs1596354607
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2395del (p.Ser799fs) rs796052919
NM_002693.3(POLG):c.2426+1G>C rs1567187745
NM_002693.3(POLG):c.2480+1G>A rs1567187326
NM_002693.3(POLG):c.2543_2544dup (p.Thr849fs) rs1567187103
NM_002693.3(POLG):c.2551A>G (p.Thr851Ala) rs775445970
NM_002693.3(POLG):c.2564T>C (p.Val855Ala) rs963553787
NM_002693.3(POLG):c.2662G>A (p.Gly888Ser) rs1567186787
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.3(POLG):c.2669A>C (p.Asp890Ala) rs1567186779
NM_002693.3(POLG):c.2674dup (p.Asp892fs) rs1283198587
NM_002693.3(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.3(POLG):c.2827C>T (p.Arg943Cys) rs1567186614
NM_002693.3(POLG):c.2828G>A (p.Arg943His) rs1567186613
NM_002693.3(POLG):c.2851T>A (p.Tyr951Asn) rs1567186591
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.3067C>T (p.Gln1023Ter) rs1567185770
NM_002693.3(POLG):c.3149del (p.Lys1050fs) rs1567185603
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs) rs1567185048
NM_002693.3(POLG):c.3447dup (p.Ala1150fs) rs1567185026
NM_002693.3(POLG):c.3483-2A>G rs1057518035
NM_002693.3(POLG):c.3490_3493dup (p.Ala1165fs) rs778115255
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg) rs1567183988
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.3(POLG):c.3673dup (p.Glu1225fs) rs1567183122
NM_002693.3(POLG):c.698dup (p.Tyr233Ter) rs1567192884
NM_002693.3(POLG):c.705G>A (p.Trp235Ter) rs1567192879
NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr) rs145555213
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
m.10158T>C rs199476117
m.10191T>C rs267606890
m.10197G>A rs267606891
m.10663T>C rs1556423844
m.11777C>A rs28384199
m.12147G>A rs121434474
m.12315G>A rs121434462
m.13042G>A rs267606898
m.13513G>A rs267606897
m.14459G>A rs199476105
m.14487T>C rs199476109
m.14846G>A rs207459998
m.15150G>A rs207460000
m.15242G>A rs207459999
m.15967G>A rs199474701
m.1606G>A rs199476143
m.3251A>G rs199474662
m.3256C>T rs199474659
m.3260A>G rs199474663
m.3271T>C rs199474658
m.3274A>G rs199474666
m.3303C>T rs199474660
m.3697G>A rs199476122
m.3946G>A rs199476123
m.5521G>A rs199474673
m.5591G>A rs121434458
m.5728T>C rs199476132
m.583G>A rs118203885
m.586G>A rs387906734
m.616T>C rs387906420
m.7497G>A rs387906419
m.7511T>C rs199474821
m.7512T>C rs199474817
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8363G>A rs118192100
m.8528T>C rs387906422
m.9379G>A rs267606615

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